Alli’s Story

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On January 20th 1983 my first born a beautiful baby girl was born 6pound 13 oz . She was perfect in every way. Only when I couldn’t get her to feed did I start to worry. She was a sleepy bub and never wanted to feed. Would take me from one feed to the next to get her to take a small amount of her bottle the whole time using my thumb under her chin to help her suckle. We went to see a Pediatrician who told us that she was just a sleepy bub because she was a little early but keep persevering, so we did.

Alli didn’t meet any of her milestones on time. Sitting up started around 10mths, Crawling 14 months, Walking 22 months. With many many Doctor visits over the years we were told that I was a paranoid parent. All children develop at a different rate not to worry. Alli was almost 3 when her brother was born. One day at a Dr visit for vaccination Alli had a petit mal seizure. Dr explained what it was and that we needed further investigation. We went to a neurologist who diagnosed Epilepsy. His wife worked for Mandala a developmental team in Liverpool at the time so he referred us there. They were wonderful and diagnosed developmental delay.

Alli started pre school and was doing well. Age 4-5 we noticed that her hands were clawing, I took her to our GP who sent us to our Occupational therapist, she in turn told me to take Alli to her Pediatrician. One look at her little hands and he said he thought she had Mucoploysaccharidosis but would need further investigating at Sydney Children’s Hospital. Initial screening was inconclusive so they done a skin core test. We waited 6 long months for those results to come back and when they did were told it wasn’t MPS but even rarer Mucolipidosis III. Geneticist told me it was caused by a leaking enzyme so I asked him when they could inject the enzyme back into her body to replace it. I was very naïve and hadn’t had anything to do with specialists and the like. He informed me that it was a progressive lysosomal storage disease with no treatment or cure. Thus started the ongoing therapies and long lists of specialists and hospital visits.

Alli has had many surgeries and we have come close to losing her several times. She is now 31 suffers from chronic pain, is wheelchair dependent, and reliant on her carers to assist her with her daily living tasks. She takes a cocktail of medications to help with the pain and had an intrathecal pain pump inserted into her tummy one year ago. ML III is also known as Pseudo-Hurler Polydystrophy. This condition affects all muscles, tissues, organs, bones and joints in the body. It is a progressive condition with no known treatment or cure.

Alli has had many surgeries over the years including 6 spinal surgeries in only 2 years. Surgery becomes necessary to maintain and in some cases is life saving. Despite all of this Alli loves life. She has great Faith and trust in GOD. To our knowledge there are only 4 people with Mucolipidosis III in Australia

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ARCAN is an organisation created by parents, for families and the community; to raise awareness for rare chromosome disorders.
With ARCAN you will never feel alone and we will celebrate our differences together.